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Items: 17


Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms.

Kumar KR, Wali G, Davis RL, Mallawaarachchi AC, Palmer EE, Gayevskiy V, Minoche AE, Veivers D, Dinger ME, Mackay-Sim A, Cowley MJ, Sue CM.

Mol Genet Metab Rep. 2018 Jul 20;16:46-51. doi: 10.1016/j.ymgmr.2018.07.003. eCollection 2018 Sep.


Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

Minoche AE, Horvat C, Johnson R, Gayevskiy V, Morton SU, Drew AP, Woo K, Statham AL, Lundie B, Bagnall RD, Ingles J, Semsarian C, Seidman JG, Seidman CE, Dinger ME, Cowley MJ, Fatkin D.

Genet Med. 2018 Jul 2. doi: 10.1038/s41436-018-0084-7. [Epub ahead of print]


Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".

Kirk EP, Barlow-Stewart K, Selvanathan A, Josephi-Taylor S, Worgan L, Rajagopalan S, Cowley MJ, Gayevskiy V, Bittles A, Burnett L, Elakis G, Lo W, Buckley M, Colley A, Roscioli T.

Genet Med. 2018 Jul 2. doi: 10.1038/s41436-018-0082-9. [Epub ahead of print]


Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.

Ewans LJ, Schofield D, Shrestha R, Zhu Y, Gayevskiy V, Ying K, Walsh C, Lee E, Kirk EP, Colley A, Ellaway C, Turner A, Mowat D, Worgan L, Freckmann ML, Lipke M, Sachdev R, Miller D, Field M, Dinger ME, Buckley MF, Cowley MJ, Roscioli T.

Genet Med. 2018 Mar 29. doi: 10.1038/gim.2018.39. [Epub ahead of print]


EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.

Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J.

JIMD Rep. 2017 Nov 21. doi: 10.1007/8904_2017_71. [Epub ahead of print]


Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J.

J Inherit Metab Dis. 2017 Sep;40(5):745-747. doi: 10.1007/s10545-017-0036-4. Epub 2017 Apr 13.


Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.

De Sousa SM, McCabe MJ, Wu K, Roscioli T, Gayevskiy V, Brook K, Rawlings L, Scott HS, Thompson TJ, Earls P, Gill AJ, Cowley MJ, Dinger ME, McCormack AI.

Eur J Endocrinol. 2017 May;176(5):635-644. doi: 10.1530/EJE-16-0944. Epub 2017 Feb 20.


A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

Riley LG, Cowley MJ, Gayevskiy V, Roscioli T, Thorburn DR, Prelog K, Bahlo M, Sue CM, Balasubramaniam S, Christodoulou J.

J Inherit Metab Dis. 2017 Mar;40(2):261-269. doi: 10.1007/s10545-016-0010-6. Epub 2016 Dec 19.


MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F; University of Washington Center for Mendelian Genomics, Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ.

Am J Hum Genet. 2016 Dec 1;99(6):1229-1244. doi: 10.1016/j.ajhg.2016.09.021. Epub 2016 Nov 3.


European derived Saccharomyces cerevisiae colonisation of New Zealand vineyards aided by humans.

Gayevskiy V, Lee S, Goddard MR.

FEMS Yeast Res. 2016 Nov;16(7). pii: fow091. Epub 2016 Oct 15.


Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

Kumar KR, Wali GM, Kamate M, Wali G, Minoche AE, Puttick C, Pinese M, Gayevskiy V, Dinger ME, Roscioli T, Sue CM, Cowley MJ.

Neurogenetics. 2016 Oct;17(4):265-270. Epub 2016 Sep 28.


Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.

Merlevede J, Droin N, Qin T, Meldi K, Yoshida K, Morabito M, Chautard E, Auboeuf D, Fenaux P, Braun T, Itzykson R, de Botton S, Quesnel B, Commes T, Jourdan E, Vainchenker W, Bernard O, Pata-Merci N, Solier S, Gayevskiy V, Dinger ME, Cowley MJ, Selimoglu-Buet D, Meyer V, Artiguenave F, Deleuze JF, Preudhomme C, Stratton MR, Alexandrov LB, Padron E, Ogawa S, Koscielny S, Figueroa M, Solary E.

Nat Commun. 2016 Feb 24;7:10767. doi: 10.1038/ncomms10767.


Saccharomyces eubayanus and Saccharomyces arboricola reside in North Island native New Zealand forests.

Gayevskiy V, Goddard MR.

Environ Microbiol. 2016 Apr;18(4):1137-47. doi: 10.1111/1462-2920.13107. Epub 2015 Dec 10.


Dataset from the global phosphoproteomic mapping of early mitotic exit in human cells.

Rogers S, McCloy RA, Parker BL, Chaudhuri R, Gayevskiy V, Hoffman NJ, Watkins DN, Daly RJ, James DE, Burgess A.

Data Brief. 2015 Aug 24;5:45-52. doi: 10.1016/j.dib.2015.08.010. eCollection 2015 Dec.


Global Phosphoproteomic Mapping of Early Mitotic Exit in Human Cells Identifies Novel Substrate Dephosphorylation Motifs.

McCloy RA, Parker BL, Rogers S, Chaudhuri R, Gayevskiy V, Hoffman NJ, Ali N, Watkins DN, Daly RJ, James DE, Lorca T, Castro A, Burgess A.

Mol Cell Proteomics. 2015 Aug;14(8):2194-212. doi: 10.1074/mcp.M114.046938. Epub 2015 Jun 8.


ObStruct: a method to objectively analyse factors driving population structure using Bayesian ancestry profiles.

Gayevskiy V, Klaere S, Knight S, Goddard MR.

PLoS One. 2014 Jan 9;9(1):e85196. doi: 10.1371/journal.pone.0085196. eCollection 2014.


Geographic delineations of yeast communities and populations associated with vines and wines in New Zealand.

Gayevskiy V, Goddard MR.

ISME J. 2012 Jul;6(7):1281-90. doi: 10.1038/ismej.2011.195. Epub 2011 Dec 22.

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